Symptom Information: Sort according to HPO 

1
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
3
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
5
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
6
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
7
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
8
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
9
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
12
 (HPO:0010547) Muscle flaccidity 466 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000610) Abnormality of the choroid Occasional [Orphanet] 11 / 7739
15
 (HPO:0000218) High palate 356 / 7739
16
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
17
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
18
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
19
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
20
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
21
 (HPO:0010458) Female pseudohermaphroditism Occasional [Orphanet] 17 / 7739
22
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
23
 (HPO:0000319) Smooth philtrum 72 / 7739
24
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
25
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
26
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
27
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
28
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
29
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
30
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
31
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
32
 (HPO:0001249) Intellectual disability 1089 / 7739
33
 (HPO:0000057) Clitoromegaly 30 / 7739
34
 (HPO:0000508) Ptosis 459 / 7739
35
 (HPO:0000543) Optic disc pallor 67 / 7739
36
 (HPO:0000670) Carious teeth 145 / 7739
37
 (HPO:0000699) Diastema 10 / 7739
38
 (HPO:0000954) Single transverse palmar crease 162 / 7739
39
 (HPO:0001591) Bell-shaped thorax 35 / 7739
40
 (HPO:0001840) Metatarsus adductus 49 / 7739
41
 (HPO:0002019) Constipation 194 / 7739
42
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
43
 (HPO:0003196) Short nose 264 / 7739
44
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
45
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
46
 (HPO:0004283) Narrow palm 8 / 7739
47
 (HPO:0006511) Laryngeal stridor 6 / 7739
48
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
49
 (OMIM) Severe constipation 2 / 7739
50
 (OMIM) Long thin hands (rare) 3 / 7739
51
 (OMIM) Long thin feet (rare) 2 / 7739
52
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
53
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
54
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
55
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
56
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
57
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
58
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739